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GENE - TERM ANNOTATION REPORT

RGD ID: 8762538
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Mtm1
Name: myotubularin 1
Acc ID: DOID:0111223
Term: centronuclear myopathy 1
Definition: An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16227997 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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